Lysosomes and Tay- Sachs disease : Tay- Sachs disease

ISBN-13: 9786138912798 / Angielski

Eman Youness; Hesham Orban; Eman Youness

Opis

Lysosomes and their equivalent structures (known as vacuoles in yeast and plant cells) have long been established as the degradative end points for both intracellular and exogenous cargo. The catabolic function of the lysosome is accomplished by an array of approximately 60 proteases, lipases, nucleases and other hydrolytic enzymes that break down complex macromolecules into their constituent building blocks Tay-Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord. It is inherited from a person's parents in an autosomal recessive manner. The mutation results in problems with an enzyme called beta-hexosaminidase A which results in the build-up of the molecule GM2 ganglioside within cells, leading to toxicity. The development of enzyme replacement therapy (ERT) is apromising option for the treatment of lysosomal storage diseases.

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O autorze

Youness, Eman
Dr. Eman Refaat Youness, MD, Medical Biochemistry, Faculty of Medicine, Cairo university, Assistant professor of medical Biochemistry, National Research centre, Egypt, Experienced in experimental design, clinical Researches, DNA, PCR,have a lot of international publications, member in international societies, Reviewer and editor in many journals